Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Definition

Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

Disease data

Classification

Disease

ORPHA code

93346

OMIM code

184250

ICD10 code

Q77.7

ICD11 code

*Soruce